Incidental Mutation 'R5432:Pdia4'
| ID |
428088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdia4
|
| Ensembl Gene |
ENSMUSG00000025823 |
| Gene Name |
protein disulfide isomerase associated 4 |
| Synonyms |
Cai, ERp72, Erp72, U48620 |
| MMRRC Submission |
042997-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5432 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
47773075-47790364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47775400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 470
(V470A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077290]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077290
AA Change: V470A
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
AA Change: V470A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
57 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
59 |
163 |
4.1e-34 |
PFAM |
|
Pfam:Calsequestrin
|
165 |
388 |
5.2e-13 |
PFAM |
|
Pfam:Thioredoxin
|
174 |
278 |
3e-34 |
PFAM |
|
Pfam:Thioredoxin_6
|
308 |
500 |
5.9e-21 |
PFAM |
|
Pfam:Thioredoxin
|
522 |
630 |
5e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a conditional allele activated in platelets exhibit decreased platelet aggregation and increased bleeding time. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
G |
A |
9: 4,309,349 (GRCm39) |
R30* |
probably null |
Het |
| Abca9 |
G |
A |
11: 110,032,380 (GRCm39) |
R746W |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,252,578 (GRCm39) |
E236G |
probably damaging |
Het |
| Asb4 |
A |
C |
6: 5,430,912 (GRCm39) |
R382S |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,178,814 (GRCm39) |
S2458P |
probably benign |
Het |
| Bspry |
T |
C |
4: 62,400,952 (GRCm39) |
V148A |
probably benign |
Het |
| Cacna2d3 |
A |
C |
14: 28,665,512 (GRCm39) |
|
probably null |
Het |
| Cblb |
T |
A |
16: 51,963,228 (GRCm39) |
H390Q |
probably damaging |
Het |
| Cct8l1 |
T |
C |
5: 25,721,305 (GRCm39) |
S7P |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,262,991 (GRCm39) |
T191A |
possibly damaging |
Het |
| Cts8 |
A |
C |
13: 61,398,826 (GRCm39) |
F227V |
probably benign |
Het |
| Elac1 |
T |
C |
18: 73,875,864 (GRCm39) |
T56A |
possibly damaging |
Het |
| Fjx1 |
T |
C |
2: 102,280,864 (GRCm39) |
N357S |
possibly damaging |
Het |
| Gm5414 |
T |
C |
15: 101,533,069 (GRCm39) |
T453A |
probably damaging |
Het |
| Hcls1 |
G |
A |
16: 36,781,910 (GRCm39) |
E340K |
probably benign |
Het |
| Hrc |
C |
A |
7: 44,986,285 (GRCm39) |
H479N |
possibly damaging |
Het |
| Ikzf4 |
A |
G |
10: 128,470,047 (GRCm39) |
V491A |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 33,873,992 (GRCm39) |
S138P |
probably damaging |
Het |
| Lama3 |
G |
T |
18: 12,705,123 (GRCm39) |
D3062Y |
probably damaging |
Het |
| Lcor |
A |
G |
19: 41,573,042 (GRCm39) |
E599G |
probably damaging |
Het |
| Llgl1 |
T |
C |
11: 60,598,449 (GRCm39) |
S442P |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,353,129 (GRCm39) |
K1517* |
probably null |
Het |
| Myo9a |
A |
T |
9: 59,772,953 (GRCm39) |
Y995F |
possibly damaging |
Het |
| Nek3 |
A |
C |
8: 22,638,748 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
G |
14: 56,101,923 (GRCm39) |
T531A |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2m12 |
A |
T |
16: 19,104,839 (GRCm39) |
I218N |
probably benign |
Het |
| Pinlyp |
T |
C |
7: 24,241,892 (GRCm39) |
D105G |
probably damaging |
Het |
| Pla2g6 |
A |
G |
15: 79,186,817 (GRCm39) |
|
probably null |
Het |
| Plpp7 |
A |
G |
2: 31,985,932 (GRCm39) |
S37G |
probably benign |
Het |
| Prdm11 |
G |
T |
2: 92,806,158 (GRCm39) |
P264Q |
probably benign |
Het |
| Rbl2 |
G |
T |
8: 91,828,911 (GRCm39) |
R604L |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,500,584 (GRCm39) |
T115A |
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,311,519 (GRCm39) |
Q279R |
probably benign |
Het |
| Sdha |
G |
T |
13: 74,475,068 (GRCm39) |
A591D |
probably damaging |
Het |
| Secisbp2 |
AAGCAGCAGCAGCAGCAGCA |
AAGCAGCAGCAGCAGCA |
13: 51,828,002 (GRCm39) |
|
probably benign |
Het |
| Sephs2 |
G |
A |
7: 126,872,977 (GRCm39) |
R39W |
probably damaging |
Het |
| Serpina3f |
T |
C |
12: 104,186,577 (GRCm39) |
I381T |
possibly damaging |
Het |
| Shd |
A |
T |
17: 56,283,214 (GRCm39) |
Q281L |
probably damaging |
Het |
| Sik3 |
A |
G |
9: 46,034,539 (GRCm39) |
S98G |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,705,728 (GRCm39) |
N232I |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,945,164 (GRCm39) |
N246Y |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,368,022 (GRCm39) |
|
probably null |
Het |
| Vwde |
A |
G |
6: 13,190,591 (GRCm39) |
M500T |
probably damaging |
Het |
| Wdr72 |
T |
G |
9: 74,183,228 (GRCm39) |
S1053R |
probably damaging |
Het |
| Yif1b |
T |
C |
7: 28,945,393 (GRCm39) |
C192R |
probably damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,568,687 (GRCm39) |
S1327G |
probably damaging |
Het |
| Zfp1004 |
A |
G |
2: 150,033,901 (GRCm39) |
N74S |
possibly damaging |
Het |
|
| Other mutations in Pdia4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01882:Pdia4
|
APN |
6 |
47,780,412 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02207:Pdia4
|
APN |
6 |
47,773,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02456:Pdia4
|
APN |
6 |
47,780,429 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0078:Pdia4
|
UTSW |
6 |
47,775,344 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0501:Pdia4
|
UTSW |
6 |
47,777,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0622:Pdia4
|
UTSW |
6 |
47,783,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1243:Pdia4
|
UTSW |
6 |
47,784,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Pdia4
|
UTSW |
6 |
47,776,133 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1830:Pdia4
|
UTSW |
6 |
47,773,695 (GRCm39) |
nonsense |
probably null |
|
|
R1853:Pdia4
|
UTSW |
6 |
47,790,161 (GRCm39) |
missense |
unknown |
|
|
R1854:Pdia4
|
UTSW |
6 |
47,790,161 (GRCm39) |
missense |
unknown |
|
|
R1951:Pdia4
|
UTSW |
6 |
47,780,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Pdia4
|
UTSW |
6 |
47,773,589 (GRCm39) |
missense |
probably benign |
|
|
R2126:Pdia4
|
UTSW |
6 |
47,773,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Pdia4
|
UTSW |
6 |
47,775,341 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2351:Pdia4
|
UTSW |
6 |
47,773,848 (GRCm39) |
splice site |
probably null |
|
|
R2415:Pdia4
|
UTSW |
6 |
47,783,490 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4375:Pdia4
|
UTSW |
6 |
47,775,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4376:Pdia4
|
UTSW |
6 |
47,775,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4377:Pdia4
|
UTSW |
6 |
47,775,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5132:Pdia4
|
UTSW |
6 |
47,773,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5250:Pdia4
|
UTSW |
6 |
47,773,619 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5339:Pdia4
|
UTSW |
6 |
47,773,619 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5541:Pdia4
|
UTSW |
6 |
47,773,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5769:Pdia4
|
UTSW |
6 |
47,792,446 (GRCm39) |
unclassified |
probably benign |
|
|
R5873:Pdia4
|
UTSW |
6 |
47,785,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Pdia4
|
UTSW |
6 |
47,777,952 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7187:Pdia4
|
UTSW |
6 |
47,790,193 (GRCm39) |
missense |
unknown |
|
|
R7231:Pdia4
|
UTSW |
6 |
47,777,891 (GRCm39) |
missense |
probably benign |
|
|
R7791:Pdia4
|
UTSW |
6 |
47,784,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:Pdia4
|
UTSW |
6 |
47,773,575 (GRCm39) |
nonsense |
probably null |
|
|
R8726:Pdia4
|
UTSW |
6 |
47,785,200 (GRCm39) |
nonsense |
probably null |
|
|
R8754:Pdia4
|
UTSW |
6 |
47,773,464 (GRCm39) |
missense |
probably benign |
|
|
R9022:Pdia4
|
UTSW |
6 |
47,785,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9175:Pdia4
|
UTSW |
6 |
47,775,417 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
RF033:Pdia4
|
UTSW |
6 |
47,785,222 (GRCm39) |
small deletion |
probably benign |
|
|
RF042:Pdia4
|
UTSW |
6 |
47,785,240 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGTCCTTTGCTGGCTCG -3'
(R):5'- GCGTCAGTGTCAGAATCTTGAATC -3'
Sequencing Primer
(F):5'- TCGGAAGCTTCGGAGTGTCAC -3'
(R):5'- GAATCTTGAATCTCACAGTCCAGGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation